Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.T4255P
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ANK3

NM_020987.5:p.T4255P

Associated Papers

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.

Maroofian R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40879451 (PubMed )
Supplement: MDS-40-2531-s002.xlsx › Foglio1

Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.

Fang X et al.

Cold Spring Harbor Molecular Case Studies, 2023

37263801 (PubMed )
Supplement: supp_mcs.a006233_Supplemental_Table_1.xlsx › ANK3_reported_variants

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.

Younus M et al.

Molecular Syndromology, 2023

Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.

Yoon S et al.

Experimental & Molecular Medicine, 2022

35794211 (PubMed )
Supplement: 12276_2022_798_MOESM1_ESM.pdf

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

Bi C et al.

Human Mutation, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."